Diagnostic challenges of celiac disease in a young child: A case report and a review of the literature

RATIONALE: Celiac disease is a chronic, immune-mediated, multiorgan disorder that affects susceptible individuals, and it is triggered by gluten and other prolamins. PATIENT CONCERNS: We present the case of a 1-year-old male child, with a history of idiopathic pericardial effusion, admitted in our clinic for severe abdominal bloating, irritability, loss of appetite and intermittent diarrheic stools. The clinical findings were: influenced general status, irritability, distended abdomen, and diffuse abdominal tenderness. DIAGNOSES: The initial laboratory tests revealed anemia, leukocytosis, increased inflammatory biomarkers, high levels of transaminases, and hypoalbuminemia. The stool culture identified an enterocolitis with enteropathogenic Escherichia coli (E. coli). INTERVENTIONS: We initiated antibiotic treatment, substitution therapy with human albumin and probiotics with initial favorable evolution, but after 1 month, the patient was re-admitted for the persistence of intermittent diarrheic stools and abdominal bloating, when we established the diagnosis of cow's milk protein allergy. We initiated diary-free diet. OUTCOMES: Unfortunately, the patient was re-admitted after another 8 months, presenting the same clinical and laboratory findings as during the initial admission. We repeated the serology for celiac disease and we performed an upper gastrointestinal endoscopy with duodenal biopsies, which established the diagnosis of celiac disease. After 1 month of gluten-free diet, the patient's evolution improved considerably. LESSONS: Enterocolitis with E. coli could be considered as trigger for CD in our case. The diagnosis of CD in small children can be hindered by an insufficient gluten-exposure, and can lead to a delay in the diagnosis as in the case presented above.